ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0334583
Disease: Pilocytic Astrocytoma
Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 163 14 0.300 None 1.000 1 2014 2014
CUI: C0547065
Disease: Mixed oligoastrocytoma
Mixed oligoastrocytoma 		disease Neoplasms Neoplastic Process 30 0.300 None 1.000 1 2014 2014
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.300 None 0
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.200 None 1.000 1 2001 2001
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		disease Musculoskeletal Diseases Anatomical Abnormality 61 6 0.110 None 1.000 1 2017 2017
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma 		disease Neoplastic Process 87 9 0.100 None 1.000 10 1 2014 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 4 1 1996 2015
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 29 45 0.100 None 1.000 1 3 2016 2016
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.100 None 1.000 1 2 2016 2016
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype Finding 71 10 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 84 3 0.100 None 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype Finding 55 3 0.100 None 0
CUI: C1865992
Disease: Short hallux
Short hallux 		phenotype Finding 23 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0
CUI: C1851130
Disease: Small cervical vertebral bodies
Small cervical vertebral bodies 		phenotype Finding 3 0.100 None 0
CUI: C1851129
Disease: Progressive cervical vertebral spine fusion
Progressive cervical vertebral spine fusion 		phenotype Finding 1 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 18 1 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C0332790
Disease: Osseous ankylosis
Osseous ankylosis 		disease Musculoskeletal Diseases Acquired Abnormality 10 1 0.100 None 0
CUI: C4023095
Disease: Ectopic ossification in tendon tissue
Ectopic ossification in tendon tissue 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 1 0.100 None 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		phenotype Finding 28 0.100 None 0
CUI: C1849016
Disease: Broad femoral neck
Broad femoral neck 		phenotype Finding 7 0.100 None 0
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		phenotype Finding 43 3 0.100 None 0
CUI: C4024079
Disease: Aplasia/Hypoplasia of the phalanges of the hallux
Aplasia/Hypoplasia of the phalanges of the hallux 		phenotype Finding 1 0.100 None 0